Incidental Mutation 'R1281:Dcaf17'
| ID |
151016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcaf17
|
| Ensembl Gene |
ENSMUSG00000041966 |
| Gene Name |
DDB1 and CUL4 associated factor 17 |
| Synonyms |
4833418A01Rik, 2810055O12Rik, A030004A10Rik, A930009G19Rik |
| MMRRC Submission |
039347-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R1281 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
70885672-70929486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70908500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 256
(I256V)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064141]
[ENSMUST00000102701]
[ENSMUST00000112159]
[ENSMUST00000112167]
[ENSMUST00000135357]
[ENSMUST00000154704]
|
| AlphaFold |
Q3TUL7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064141
AA Change: I242V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102701
AA Change: I242V
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112159
AA Change: I242V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112167
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130292
AA Change: I256V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000117830
Gene: ENSMUSG00000041966
AA Change: I256V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DCAF17
|
55 |
405 |
6.6e-166 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132619
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135357
AA Change: I155V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000118011
Gene: ENSMUSG00000041966
AA Change: I155V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
98 |
117 |
N/A |
INTRINSIC |
|
transmembrane domain
|
132 |
151 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154704
AA Change: I242V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136299
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aim2 |
A |
T |
1: 173,287,377 (GRCm39) |
K126* |
probably null |
Het |
| C9 |
A |
T |
15: 6,519,321 (GRCm39) |
N386I |
possibly damaging |
Het |
| Csnk1e |
A |
C |
15: 79,304,841 (GRCm39) |
N387K |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,822,460 (GRCm39) |
T1758A |
probably damaging |
Het |
| Duox1 |
G |
A |
2: 122,157,569 (GRCm39) |
C565Y |
probably damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,902,759 (GRCm39) |
H379R |
possibly damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Krt1c |
C |
A |
15: 101,721,727 (GRCm39) |
C438F |
probably damaging |
Het |
| Mast4 |
G |
A |
13: 102,887,086 (GRCm39) |
T1001I |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,298,321 (GRCm39) |
F726L |
probably damaging |
Het |
| Mroh2a |
T |
TN |
1: 88,183,889 (GRCm39) |
|
probably null |
Het |
| Mttp |
T |
C |
3: 137,812,980 (GRCm39) |
N550S |
possibly damaging |
Het |
| Necap1 |
G |
T |
6: 122,851,573 (GRCm39) |
D16Y |
possibly damaging |
Het |
| Nox3 |
A |
T |
17: 3,746,460 (GRCm39) |
I26N |
probably damaging |
Het |
| Patj |
T |
C |
4: 98,304,932 (GRCm39) |
I262T |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,005,166 (GRCm39) |
E953G |
probably damaging |
Het |
| Pirb |
A |
T |
7: 3,720,189 (GRCm39) |
C395S |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,429,250 (GRCm39) |
I433M |
probably benign |
Het |
| Sclt1 |
A |
G |
3: 41,602,055 (GRCm39) |
F552L |
probably benign |
Het |
| Smc5 |
T |
C |
19: 23,213,247 (GRCm39) |
N479S |
probably benign |
Het |
| Tg |
G |
A |
15: 66,568,338 (GRCm39) |
V1342I |
probably benign |
Het |
| Ube2n |
C |
A |
10: 95,377,618 (GRCm39) |
N132K |
probably benign |
Het |
| Vmn2r55 |
A |
T |
7: 12,404,825 (GRCm39) |
C193S |
probably benign |
Het |
| Zc3hav1 |
A |
G |
6: 38,330,872 (GRCm39) |
C96R |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,437,852 (GRCm39) |
V53E |
probably damaging |
Het |
|
| Other mutations in Dcaf17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Dcaf17
|
APN |
2 |
70,908,503 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01125:Dcaf17
|
APN |
2 |
70,920,149 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01761:Dcaf17
|
APN |
2 |
70,886,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02641:Dcaf17
|
APN |
2 |
70,912,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0081:Dcaf17
|
UTSW |
2 |
70,908,812 (GRCm39) |
splice site |
probably benign |
|
|
R0388:Dcaf17
|
UTSW |
2 |
70,908,915 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0593:Dcaf17
|
UTSW |
2 |
70,917,744 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0637:Dcaf17
|
UTSW |
2 |
70,890,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0661:Dcaf17
|
UTSW |
2 |
70,918,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1454:Dcaf17
|
UTSW |
2 |
70,903,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1501:Dcaf17
|
UTSW |
2 |
70,912,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1908:Dcaf17
|
UTSW |
2 |
70,890,713 (GRCm39) |
nonsense |
probably null |
|
|
R1919:Dcaf17
|
UTSW |
2 |
70,908,516 (GRCm39) |
splice site |
probably null |
|
|
R2882:Dcaf17
|
UTSW |
2 |
70,912,371 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4585:Dcaf17
|
UTSW |
2 |
70,918,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4586:Dcaf17
|
UTSW |
2 |
70,918,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6093:Dcaf17
|
UTSW |
2 |
70,912,356 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7070:Dcaf17
|
UTSW |
2 |
70,918,857 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8289:Dcaf17
|
UTSW |
2 |
70,885,718 (GRCm39) |
missense |
|
|
|
R8418:Dcaf17
|
UTSW |
2 |
70,918,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8681:Dcaf17
|
UTSW |
2 |
70,886,913 (GRCm39) |
nonsense |
probably null |
|
|
R8786:Dcaf17
|
UTSW |
2 |
70,917,744 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8879:Dcaf17
|
UTSW |
2 |
70,893,746 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9072:Dcaf17
|
UTSW |
2 |
70,920,136 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9312:Dcaf17
|
UTSW |
2 |
70,908,458 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9460:Dcaf17
|
UTSW |
2 |
70,917,695 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTGCTGCTTGCCTCTAATAACAC -3'
(R):5'- GAATGCCAAAAGGAGCCTCTCCTAC -3'
Sequencing Primer
(F):5'- ACTAGAGCCTCAAGTTGCTAAG -3'
(R):5'- GCACACCCTAAGTCAAGTTTCTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation